Canonical Allele Identifier: CA342635862
Community Standard Title: NM_001111.5(ADAR):c.3040G>T (p.Glu1014Ter)
Gene: ADAR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154586343C>A , CM000663.2:g.154586343C>A GRCh38
NC_000001.10:g.154558819C>A , CM000663.1:g.154558819C>A GRCh37
NC_000001.9:g.152825443C>A NCBI36
NG_011844.1:g.46619G>T
NG_011844.2:g.50218G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001111.5:c.3040G>T MANE Select NP_001102.3:p.Glu1014Ter
ENST00000368474.9:c.3040G>T MANE Select ENSP00000357459.4:p.Glu1014Ter
NM_001025107.2:c.2155G>T NP_001020278.1:p.Glu719Ter
NM_001025107.3:c.2155G>T NP_001020278.1:p.Glu719Ter
NM_001111.4:c.3040G>T NP_001102.2:p.Glu1014Ter
NM_001193495.1:c.2155G>T NP_001180424.1:p.Glu719Ter
NM_001193495.2:c.2155G>T NP_001180424.1:p.Glu719Ter
NM_001365045.1:c.3067G>T NP_001351974.1:p.Glu1023Ter
NM_001365046.1:c.2155G>T NP_001351975.1:p.Glu719Ter
NM_001365047.1:c.2155G>T NP_001351976.1:p.Glu719Ter
NM_001365048.1:c.2155G>T NP_001351977.1:p.Glu719Ter
NM_001365049.1:c.2077G>T NP_001351978.1:p.Glu693Ter
NM_015840.3:c.2962G>T NP_056655.2:p.Glu988Ter
NM_015840.4:c.2962G>T NP_056655.3:p.Glu988Ter
NM_015841.3:c.2905G>T NP_056656.2:p.Glu969Ter
NM_015841.4:c.2905G>T NP_056656.3:p.Glu969Ter
ENST00000368471.7:c.2155G>T ENSP00000357456.3:p.Glu719Ter
ENST00000368471.8:c.2155G>T ENSP00000357456.3:p.Glu719Ter
ENST00000368474.8:c.3040G>T ENSP00000357459.4:p.Glu1014Ter
ENST00000492630.2:n.1425G>T
ENST00000529168.1:c.2947G>T ENSP00000431794.1:p.Glu983Ter
ENST00000529168.2:c.2962G>T ENSP00000431794.2:p.Glu988Ter
ENST00000530954.1:n.177G>T
ENST00000534279.1:n.499G>T
ENST00000647682.2:n.3025G>T
ENST00000648231.2:c.2155G>T ENSP00000497555.1:p.Glu719Ter
ENST00000648311.1:c.2155G>T ENSP00000498137.1:p.Glu719Ter
ENST00000648714.2:c.*515G>T ENSP00000497434.2:n.*515G>T
ENST00000649021.1:n.3368G>T
ENST00000649022.2:c.2155G>T ENSP00000496896.2:p.Glu719Ter
ENST00000649042.1:c.2155G>T ENSP00000497790.1:p.Glu719Ter
ENST00000649042.2:c.2934G>T ENSP00000497790.2:n.2934G>T
ENST00000649408.2:c.*206G>T ENSP00000497386.2:n.*206G>T
ENST00000649724.1:c.2155G>T ENSP00000497932.1:p.Glu719Ter
ENST00000649724.2:c.3070G>T ENSP00000497932.2:p.Glu1024Ter
ENST00000649749.1:c.2155G>T ENSP00000497210.1:p.Glu719Ter
ENST00000679375.1:c.*1272G>T ENSP00000505887.1:n.*1272G>T
ENST00000679465.1:n.3493G>T
ENST00000679805.1:n.3368G>T
ENST00000679899.1:c.2098G>T ENSP00000505996.1:p.Glu700Ter
ENST00000680270.1:c.2155G>T ENSP00000505532.1:p.Glu719Ter
ENST00000680270.2:c.2923G>T ENSP00000505532.2:p.Glu975Ter
ENST00000680305.1:c.3020-478G>T ENSP00000506312.1:n.3020-478G>T
ENST00000681056.1:c.2155G>T ENSP00000506234.1:p.Glu719Ter
ENST00000681056.2:c.2692G>T ENSP00000506234.2:p.Glu898Ter
ENST00000681235.1:c.*2562G>T ENSP00000506606.1:n.*2562G>T
ENST00000681429.1:n.2300G>T
ENST00000681683.1:c.2155G>T ENSP00000506666.1:p.Glu719Ter
ENST00000681786.1:n.3493G>T
ENST00000681901.1:c.*2640G>T ENSP00000504883.1:n.*2640G>T
XM_006711109.1:c.3070G>T XP_006711172.1:p.Glu1024Ter
XM_006711111.2:c.2155G>T XP_006711174.1:p.Glu719Ter
XM_006711112.1:c.2155G>T XP_006711175.1:p.Glu719Ter
XM_006711113.1:c.2155G>T XP_006711176.1:p.Glu719Ter
XM_006711113.2:c.2155G>T XP_006711176.1:p.Glu719Ter
XM_011509060.1:c.3169G>T XP_011507362.1:p.Glu1057Ter
XM_011509061.1:c.3091G>T XP_011507363.1:p.Glu1031Ter
XM_011509061.2:c.2077G>T XP_011507363.2:p.Glu693Ter
XM_011509062.1:c.3058G>T XP_011507364.1:p.Glu1020Ter
XM_024449674.1:c.3169G>T XP_024305442.1:p.Glu1057Ter